scholarly journals Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

2013 ◽  
Vol 50 (10) ◽  
pp. 662-665 ◽  
Author(s):  
Carolyn Bondy ◽  
Vladimir K Bakalov ◽  
Clara Cheng ◽  
Laura Olivieri ◽  
Douglas R Rosing ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Aortic Coarctation

The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
E Klaskova ◽  
P Vrtel ◽  
R Vrtel ◽  
K Adamova ◽  
D.I.T.A Vrbicka ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Genomic Imprinting ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Congenital Heart Defects ◽  
Aortic Coarctation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Funding Source

Abstract Introduction Turner syndrome (TS) is caused by the absence or structural abnormality of X chromosome. Compared with the general population, the prevalence of congenital heart defects is significantly higher in women with TS, especially with 45,X karyotype. Moreover, congenital heart defects represent the major risk for aortic dissection in TS individuals. Purpose There is a lack of reliable evidence whether the extremely variable cardiovascular phenotype including presence of aortic coarctation (CoA) and bicuspid aortic valve (BAV) in TS women may be influenced by the parental origin of the retained X chromosome. Methods DNA samples were collected from peripheral lymphocytes of 48 women with non-mosaic 45,X karyotype and from buccal swab of their biological parents' cheek. Subsequently, the single normal X-chromosome origin was identified. Based on genetic evaluation, patients were divided into two subgroups according to the parenteral original of X chromosome - maternal (XM), and paternal (XP). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) was performed in each of our study patient. Differences between the prevalence of BAV and CoA in two above mentioned subgroups were tested by Student's t-test using R Statistical Software version 2.15.3. Results The origin of the single X chromosome was as follows: in 14 (29.2%) individuals was proved paternal and in 34 (70.8%) maternal origin of X chromosome. The prevalence of BAV in the whole group was 47.9%, in XP 58%, in XM 44.1%; the prevalence of CoA in the whole group was 8.3%, in XP 7.1%, in XM 8.8%. There was no statistically significant difference identified between the prevalence of BAV and CoA in XP and XM subgroups. Conclusions Our study confirmed an extremely high prevalence of BAV and CoA in non-mosaic women with X chromosome monosomy but no clear evidence for X-linked genomic imprinting effect on the CoA and BAV development in TS individuals was found. However, further studies of larger numbers of TS patients are crucial to finally clarify the real relationship of genomic imprinting and cardiovascular disease in TS. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Supported by the grant from Ministry of Health of the Czech Republic VES 2017

Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging

2010 ◽  
Vol 20 (2) ◽  
pp. 191-200 ◽  
Author(s):  
Kristian Havmand Mortensen ◽  
Britta Eilersen Hjerrild ◽  
Niels Holmark Andersen ◽  
Keld Ejvind Sørensen ◽  
Arne Hørlyck ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Aortic Valve ◽  
Head And Neck ◽  
Aortic Arch ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Aortic Coarctation ◽  
Resonance Imaging ◽  
Aortic Dilation

AbstractBackgroundEctatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries.ObjectiveWe investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype.DesignMagnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch artery and aortic dimensions in 99 adult women with Turner syndrome compared with 33 healthy female controls. Echocardiography determined aortic valve morphology.ResultsIn Turner syndrome, the relative risk of any congenital abnormality was 7.7 (p = 0.003) and 6.7 of ascending aortic dilation (p = 0.02). A bovine aortic arch was seen in both Turner syndrome and controls. Other abnormalities were only encountered in Turner syndrome: elongated transverse aortic arch (47%), bicuspid aortic valve (27%), aortic coarctation (13%), aberrant right subclavian artery (8%), and aortic arch hypoplasia (2%). The innominate and left common carotid arteries were enlarged in Turner syndrome (p < 0.001). Significant associations were first, bicuspid aortic valve with aortic coarctation, elongated transverse aortic arch, and ascending aortic dilation; second, aortic coarctation with elongated aortic arch and descending aortic dilation; third, 45,X with aortic coarctation, elongated transverse aortic arch and ascending aortic dilation; and fourth, branch artery dilation with bicuspid aortic valve, aortic coarctation, elongated transverse aortic arch and 45,X.ConclusionAn increased risk of arterial abnormalities, aortic dilation, and enlargement of the branch arteries was found in Turner syndrome without distinct patterns of co-segregation.

Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Eva Klásková ◽  
Jiřina Zapletalová ◽  
Sabina Kaprálová ◽  
Marta Šnajderová ◽  
Jan Lebl ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Cell Line ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
P Value ◽  
Structural Abnormality ◽  
Study Group ◽  
Exact Relation ◽  
The Individual

AbstractBackground:Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV.Methods:Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups−45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined.Results:Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI – 103.8–418.0); p-value<0.0001]. Individuals with 45,X karyotype had the highest prevalence of BAV – 40.7%, p-value<0.0001. Presence of any 45,X cell line in karyotype significantly predisposed to BAV (p-value=0.05).Conclusions:The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.

scholarly journals Bicuspid aortic valve morphology may have prognostic value in fetal Turner syndrome

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P2110-P2110
Author(s):  
K. Van Engelen ◽  
M. M. Bartelings ◽  
A. C. Gittenberger-De Groot ◽  
M. J. H. Baars ◽  
A. V. Postma ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Prognostic Value ◽  
Valve Morphology

scholarly journals TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

PLoS Genetics ◽  
2018 ◽  
Vol 14 (10) ◽  
pp. e1007692 ◽  
Author(s):  
Holly Corbitt ◽  
Shaine A. Morris ◽  
Claus H. Gravholt ◽  
Kristian H. Mortensen ◽  
Rebecca Tippner-Hedges ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Risk Genes

The assessment of aortic coarctation among the children's population in lviv region

2020 ◽  
Vol 26 (4) ◽  
pp. 4-12
Author(s):  
A.А. Malska ◽  
◽  
O.B. Kuryliak ◽  
Keyword(s):  
Aortic Valve ◽  
Arterial Hypertension ◽  
Aortic Arch ◽  
Bicuspid Aortic Valve ◽  
Aortic Coarctation ◽  
Coarctation Of The Aorta ◽  
Oval Window ◽  
Surgical Correction ◽  
Congenital Defects ◽  
Surgical Methods

Aim. To determine the rate of aortic coarctation, the correlation of its anatomical forms - critical and not critical, and the frequency of combination with the associated pathology; to define the features of the clinical course of its different anatomical forms; and to analyze the remote results of the surgical correction of this defect. Material and Methods. The article represents the statistical analysis of outpatient medical records and case histories of 86 children with aortic coarctation in Lviv region. In the course of the research, retrospective and epidemiological studies were carried out; clinical (data acquisition of medical history, physical examination), instrumental (Doppler echocardiography, ECG, X-ray imaging of organs of the thoracic cavity), and statistical methods were used. Results and Discussion. It was determined that over the period of 2008-2020 years, out of 74 neonates with CoA registered at Lviv Regional Children's Hospital (Health Care of Mother and Child) 40,54% had the critical CoA form, while 59 (46%) - uncritical CoA form. In children with the critical CoA form, the most frequent findings were hypoplasia of the aortic arch (56,67%), open aortic duct (53,33%), and open oval window (53,33%); in 36,6% cases CoA was combined with the bicuspid aortic valve, interatrial septal defect, and transposition of great vessels. However, the uncritical CoA form was more frequently combined with the bicuspid aortic valve (52,27%), and hypoplastic aortic arch (31,82%); aortic stenosis was revealed in 20,45% of children. After the surgical correction in 43,59% of the operated patients with uncritical CoA, excessive arterial hypertension was observed, while in critical form, the frequency of excessive arterial hypertension among the operated patients amounted to 10%. According to our research, after the plasty of the critical CoA, aortic recoarctation was observed in 3.33% of the operated patients, whereas, in case of the uncritical CoA form, it occurred in 30,77% of the operated ones. Conclusions. Coarctation of the aorta is a congenital heart disease with relatively high incidence, amounting to 5-8% out of all congenital defects of the heart. In newborns, it is manifested by acute cardiac failure, while in elder children it is presented with arterial hypertension. Echocardiographic examination after Doppler analysis is the basic procedure of diagnostics and allows for precise determination of the CoA anatomy. The majority of cardiologists recommend prompt surgical intervention after the diagnosis has been made, and, particularly, in patients with hypertension. At present, the available surgical methods include surgical excision of the aortic obstruction, and catheter intervention (the balloon angioplasty and stent implantation) . After the surgical correction has been performed, arterial hypertension persists. The duration of hypertension after the coarctation correction depends on its duration before the diagnosis is made and the timing of surgical correction of the defect. With the child's growth , recoarctation may occur. In such patients, normal arterial pressure can be determined in the state of rest, but it may increase in the upper extremities during physical exertion. Key words: aortic coarctation, associated pathology, excessive arterial hypertension, recoarctation

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